G11778A-F638

**Figure 1\. Pedigree diagram for family G11778A\-F638\.**

![](/media/202606/20260630173659532467.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F638 | Brazil | LHON | 3 | 1 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F638 from Brazil with lhon. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was lhon, visual loss.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II1 | Fam | F | N | N | A | 14 | Homo | / | / | / | Healthy | Original ID: C1 |
| 2 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II2 | Fam | F | N | N | A | 36 | Homo | / | / | / | Healthy | Original ID: C4 |
| 3 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II3 | Fam | F | N | N | A | 57 | Homo | / | / | / | Healthy | Original ID: C11 |
| 4 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II4 | Fam | F | Y | Y | A | 39 | Homo | / | / | / | LHON; visual loss | Original ID: A14 |
| 5 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II5 | Fam | M | N | Y | A | 62 | Homo | / | / | / | LHON; visual loss | Original ID: A15 |

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